Results 11 to 20 of about 4,347 (166)

Eight Novel Mutations of the ADAR1 Gene in Chinese Patients with Dyschromatosis Symmetrica Hereditaria [PDF]

Genetic Testing and Molecular Biomarkers, 2018
Aims: To identify potential novel gene mutations in Chinese patients with dyschromatosis symmetrica hereditaria (DSH). Methods: We enrolled 8 Chinese patients with familial DSH, 5 Chinese patients with sporadic ...
Chen Tu, Sheng-Xiang Xiao
exaly   +5 more sources

Heterozygous ADAR mutant mice exhibit RNA sensing-dependent neuroinflammation and phenotypes associated with Aicardi-Goutières syndrome [PDF]

iScience
Summary: The ADARG1007R mutation is frequently found in type six Aicardi-Goutières syndrome (AGS), a severe inflammatory encephalopathy in pediatric patients, and is distinct in having a phenotype in heterozygotes.
Xinfeng Guo, Jia-Jun Liu, Chaowei Shang, Christopher J. Guerriero, Clayton Wiley, Richard A. Steinman, Yi Sheng, Timothy R. Billiar, Daniella M. Schwartz, Jeffrey L. Brodsky, Silvia Liu, Qingde Wang   +11 more
doaj   +2 more sources

Case Report: Aicardi-Goutières Syndrome Type 6 and Dyschromatosis Symmetrica Hereditaria With Congenital Heart Disease and Mitral Valve Calcification – Phenotypic Variants Caused by Adenosine Deaminase Acting on the RNA 1 Gene Homozygous Mutations

Frontiers in Pediatrics, 2022
Dyschromatosis symmetrica hereditaria (DSH), characterized by a mixture of hyper- and hypopigmented macules on the skin, is a rare pigmentary dermatosis of autosomal dominant inheritance.
Lingjuan Liu, Lingjuan Liu, Lu Zhang, Lu Zhang, Peng Huang, Peng Huang, Jie Xiong, Jie Xiong, Yangyang Xiao, Yangyang Xiao, Cheng Wang, Cheng Wang, Dingan Mao, Dingan Mao, Liqun Liu, Liqun Liu   +15 more
doaj   +1 more source

Multi-dimensional insight into the coexistence of pathogenic genes for ADAR1 and TSC2: careful consideration is essential for interpretation of ADAR1 variants

Biochemical Genetics, 2023
Abstract Background Aicardi-Goutières syndrome 6 (AGS6) is a serious auto immunization-associated acute neurologic decompensation. AGS6 manifests as acute onset of severe generalized dystonia of limbs and developmental regression secondary to febrile illness mostly.
Xiangyu Liu, Meifang Lei, Yan Xue, Hong Li, Jing Yin, Dong Li, Jianbo Shu, Chunquan Cai   +7 more
openaire   +2 more sources

An ADAR1-dependent RNA editing event in the cyclin-dependent kinase CDK13 promotes thyroid cancer hallmarks

Molecular Cancer, 2021
Background Adenosine deaminases acting on RNA (ADARs) modify many cellular RNAs by catalyzing the conversion of adenosine to inosine (A-to-I), and their deregulation is associated with several cancers.
Julia Ramírez-Moya, Christos Miliotis, Allison R. Baker, Richard I. Gregory, Frank J. Slack, Pilar Santisteban   +5 more
doaj   +1 more source

ADAR1 is a promising risk stratification biomarker of remnant liver recurrence after hepatic metastasectomy for colorectal cancer

Scientific Reports, 2023
Adenosine-to-inosine RNA editing is a process mediated by adenosine deaminases that act on the RNA (ADAR) gene family. It has been discovered recently as an epigenetic modification dysregulated in human cancers.
Nanako Hata, Kunitoshi Shigeyasu, Yuzo Umeda, Shuya Yano, Sho Takeda, Kazuhiro Yoshida, Tomokazu Fuji, Ryuichi Yoshida, Kazuya Yasui, Hibiki Umeda, Toshiaki Takahashi, Yoshitaka Kondo, Hiroyuki Kishimoto, Yoshiko Mori, Fuminori Teraishi, Hideki Yamamoto, Hiroyuki Michiue, Keiichiro Nakamura, Hiroshi Tazawa, Toshiyoshi Fujiwara   +19 more
doaj   +1 more source

ADAR1 Facilitates KSHV Lytic Reactivation by Modulating the RLR-Dependent Signaling Pathway

Cell Reports, 2020
Summary: Kaposi’s sarcoma-associated herpesvirus (KSHV) is a double-stranded DNA virus that exhibits two alternative life cycles: latency and lytic reactivation.
Huirong Zhang, Guoxin Ni, Blossom Damania   +2 more
doaj   +1 more source

Emerging role of the RNA-editing enzyme ADAR1 in stem cell fate and function

Biomarker Research, 2023
Stem cells are critical for organism development and the maintenance of tissue homeostasis. Recent studies focusing on RNA editing have indicated how this mark controls stem cell fate and function in both normal and malignant states.
Di Lu, Jianxi Lu, Qiuli Liu, Qi Zhang
doaj   +1 more source

Five novel mutations in the ADAR1 gene associated with dyschromatosis symmetrica hereditaria [PDF]

BMC Medical Genetics, 2014
Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominantly inherited skin disease associated with mutations of ADAR1, the gene that encodes a double-stranded RNA-specific adenosine deaminase. The purpose of this study was to investigate the potential mutations in ADAR1 in seven Chinese families with DSH.All the coding exons including ...
Liu, Qi, Wang, Zhen, Wu, Yuhong, Cao, Lihua, Tang, Qingzhu, Xing, Xuesha, Ma, Hongwei, Zhang, Shifa, Luo, Yang   +8 more
openaire   +2 more sources

The involvement of ADAR1 in chronic unpredictable stress-induced cognitive impairment by targeting DARPP-32 with miR-874-3p in BALB/c mice

Frontiers in Cell and Developmental Biology, 2023
Introduction: Chronic stress exposure is the main environmental factor leading to cognitive impairment, but the detailed molecular mechanism is still unclear.
Yanfang Wang, Yingxin Liu, Ziwei Zhao, Xinyu Wu, Jiabin Lin, Yufei Li, Wei Yan, Yi Wu, Yanfei Shi, Xindi Wu, Ying Xue, Jiaqian He, Shuqi Liu, Xiaonan Zhang, Hong Xu, Yiyuan Tang, Shengming Yin   +16 more
doaj   +1 more source